2014, Number 6
<< Back Next >>
Cir Cir 2014; 82 (6)
Determination of von Willebrand factor multimers in Mexican population
Hernández-Zamora E, Zavala-Hernández C, Viveros-Sandoval ME, Ochoa-Rico Á, Martínez-Murillo C, Reyes-Maldonado E
Language: Spanish
References: 41
Page: 607-618
PDF size: 606.03 Kb.
ABSTRACT
Background: Von Willebrand disease is an inherited disease in which
the structure, function, and concentration of von Willebrand factor
are altered, as well as the platelet von Willebrand factor endothelium
interaction. In Mexico there are no epidemiological records of the
disease. Only a few isolated studies have been reported from the clinical
and hematological standpoint.
Methods: We studied 155 Mexican Mestizos: 75 with presumptive
diagnosis of von Willebrand disease, 15 with suspected diagnosis of hemophilia A and 65 healthy donors (controls). Basic coagulation tests,
special tests and classification test (analysis of multimeric composition)
were carried out.
Results: There were 15 patients with clinical diagnosis of hemophilia A,
75 patients with suspected von Willebrand disease of which 50 were
diagnosed as the following types and subtypes: Type 1 (62%), Type 2
(22%) [subtypes: 2A (14%), 2B (2%), and 2N (6%)] and Type 3 (16%).
Conclusion: It has been reported that analysis of von Willebrand factor
is a method that meets the characteristics for the diagnosis of von
Willebrand disease. It is necessary to implement this methodology to
study and improve the specific diagnoses.
REFERENCES
Vischer UM, de Moerloose P. von Willebrand factor: from cell biology to the clinical management of von Willebrand’s disease. Crit Rev Oncol Hematol 1999;30(2):93-109.
Budde U, Drewke E, Mainusch K, Schneppenheim R. Laboratory Diagnosis of Congenital von Willebrand Disease. Semin Thromb Hemost 2002;28(2):173-190.
Federici AB. Clinical diagnosis of von Willebrand disease. Haemophilia 2004;10(Suppl 4):169-176.
Mancuso DJ, Tuley EA, Westfield LA, Worrall NK, Shelton-Inloes BB, Sorace JM, et al. Structure of the gene for human von Willebrand factor. J Biol Chem 1989;264(33):19514-19527.
Schneppenheim R, Budde U. von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein. J Thromb Haemost 2011;9(Suppl 1):209-215.
Triplett DA. Laboratory diagnosis of von Willebrand’s disease. Mayo Clin Proc 1991;66(8):832-840.
Nichols WL, Hultin MB, James AH, Manco-Johnson MJ, Montgomery RR, Ortel TL, et al. von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia 2008;14(2):171-232.
Hoyer LW. Immunologic studies of antihemophilic factor (AHF, factor VIII). IV. Radioimmunoassay of AHF antigen. J Lab Clin Med 1972;80(6):822-833.
Laurell CB. Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies. Anal Biochem 1966;15(1):45-52.
Veyradier A, Fressinaud E, Sigaud M, Wolf M, Meyer D. A new automated method for von Willebrand factor antigen measurement using latex particles. Thromb Haemost 1999;81(2):320-321.
Zimmerman TS, Hoyer LW, Dickson L, Edgington TS. Determination of the von Willebrand’s disease antigen (factor VIII-related antigen) in plasma by quantitative immunoelectrophoresis. J Lab Clin Med 1975;86(1):152-159.
Fass DN, Knutson GJ, Bowie EJ. Porcine Willebrand factor: a population of multimers. J Lab Clin Med 1978;91(2):307-320.
Tsai HM, Nagel RL, Hatcher VB, Sussman II. Multimeric composition of endothelial cell-derived von Willebrand factor. Blood 1989;73(8):2074-2076.
Ruggeri ZM, Zimmerman TS. Variant von Willebrand’s disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets. J Clin Invest 1980;65(6):1318-1325.
Melo-Nava B, Peñaloza R. Molecular biology of von Willebrand disease. Rev Invest Clin 2007;59(5):401-408.
Majluf-Cruz A, Velez-Ruelas MA, Gonzalez-Avila AI, Garcia-Chávez J, Berges A, Lopez-Santiago N, et al. von Willebrand’s disease in Mexico: a pilot study. Haemophilia 2013;19(2):231-235.
Collins CJ, Underdahl JP, Levene RB, Ravera CP, Morin MJ, Dombalagian MJ, et al. Molecular cloning of the human gene for von Willebrand factor and identification of the transcription initiation site. Proc Natl Acad Sci U.S.A. 1987;84(13):4393-4397.
Schneppenheim R. The pathophysiology of von Willebrand disease: therapeutic implications. Thromb Res 2011;128(Suppl 1):S3-7.
Reininger AJ. Function of von Willebrand factor in haemostasis and thrombosis. Haemophilia 2008;14(Suppl 5):11-26.
Gonzales JU, Thistlethwaite JR, Thompson BC, Scheuermann BW. Exercise-induced shear stress is associated with changes in plasma von Willebrand factor in older humans. Eur J Appl Physiol 2009;106(5):779-784.
Budde U. Diagnosis of von Willebrand disease subtypes: implications for treatment. Haemophilia 2008;14 (Suppl 5):27-38.
Gadisseur A, Hermans C, Berneman Z, Schroyens W, Deckmyn H, Michiels JJ. Laboratory diagnosis and molecular classification of von Willebrand disease. Acta Haematol 2009;121(2-3):71-84.
Berntorp E, Peake I, Budde U, Laffan M, Montgomery R, Windyga J, et al. von Willebrand’s disease: a report from a meeting in the Åland islands. Haemophilia 2012;18(Suppl 6):1-13.
Martínez-Murillo C, Quintana González S, Ambriz Fernández R, Domínguez García V, Rodríguez Moyado H, Arias Aranda A, et al. Report of 2 cases with acquired von Willebrand disease and one with acquired hemophilia A. Rev Invest Clin 1995;47(3):211-216.
Melo-Nava BM, Benítez H, Palacios JJ, Nieva B, Arenas D, Jaloma-Cruz AR, et al. Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations. Blood Cells Mol Dis 2007;39(3):361-365.
Guía de práctica clínica: Diagnóstico y Tratamiento de la Enfermedad de Von Willebrand, México: Secretaria de Salud, 2010.
Martínez-Murillo C, Quintana-González S, Ambriz- Fernández R, Arzate-Hernández G, Gutiérrez-Romero M, Gaminio-Gómez E. Utility of desmopressin in 4 cases of thrombocytopathies associated with giant platelets. Rev Invest Clin 1997;49(4):281-286.
CLSI (antes NCCLS). Procedures for the Handling and Processing of Blood Specimens; Approved Guideline—Third Edition. NCCLS document H18-A3 (ISBN 1-56238-555-0). NCCLS, 940 West Valley Road, Suite 1400, Wayne, Pennsylvania 19087-1898 USA, 2004;24(38):1-39.
Ríos E, Pinochet M, Mandujano TM. Modified Ivy’s bleeding time; normal values in children. Rev Chil Pediatr 1982;53(6):552-554.
CLSI (antes NCCLS): One-Stage Prothrombin time (PT) Test and Activated Partial Thromboplastin Time (APTT) Test; Approved Guideline. Document H47-A 1996;28(20):1-17.
CLSI (antes NCCLS). Determination of Factor Coagulant Activities; Approved Guideline. Document H48-A 1997;17(4):1-21.
NCCLS. Assays of von Willebrand Factor Antigen and Ristocetin Cofactor Activity; Approved Guideline. NCCLS document H51-A 2002;22(20):1-19.
Norma Oficial Mexicana NOM-253-SSA1-2012, “Para la disposición de sangre humana y sus componentes con fines terapéuticos”. (Consultado 2014 mayo 19). Disponible en http://www. dof.gob.mx/normasOficiales/4917/salud3a/salud3a.html
Mezzano D, Quiroga T, Pereira J. The level of laboratory testing required for diagnosis or exclusion of a platelet function disorder using platelet aggregation and secretion assays. Semin Thromb Hemost 2009;35(2):242-254.
Goldin LR, Elston RC, Graham JB, Miller CH. Genetic analysis of von Willebrand’s disease in two large pedigrees: a multivariate approach. Am J Med Genet 1980;6(4):279- 293.
Eikenboom JC, Reitsma PH, van der Velden PA, Briët E. Instability of repeats of the von Willebrand factor gene variable number tandem repeat sequence in intron 40. Br J Haematol 1993;84(3):533-535.
Sadler JE, Gralnick HR. Commentary: a new classification for von Willebrand disease. Blood 1994;84(3):676-679.
Batlle J, Torea J, Rendal E, Fernández MF. The problem of diagnosing von Willebrand’s disease. J Intern Med Suppl 1997;740:121-128.
Federici AB, Bucciarelli P, Castaman G, Baronciani L, Canciani MT, Mazzucconi MG, et al. Management of inherited von Willebrand disease in Italy: results from the retrospective study on 1234 patients. Semin Thromb Hemost 2011;37(5):511-521.
Morales-de la Vega A, Reyes-Maldonado E, Martínez- Murillo C, Quintana-González S. Type 2N von Willebrand disease (Normandy). Rev Med Inst Mex Seguro Soc 2008;46(1):55-62.
Purvis AR, Gross J, Dang LT, Huang RH, Kapadia M, Townsend RR, et al. Two Cys residues essential for von Willebrand factor multimer assembly in the Golgi. Proc Natl Acad Sci U.S.A. 2007;104(40):15647-15652.